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Neural tube defects: recent advances, unsolved questions, and controversies

Lancet neurology, 2013-08, Vol.12 (8), p.799-810

2013

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Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Journal of investigative dermatology, 2013-09, Vol.133 (9), p.2229-2236

2013

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Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

Scientific reports, 2017-05, Vol.7 (1), p.2441-8, Article 2441

2017

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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Human molecular genetics, 2018-06, Vol.27 (11), p.1927-1940

2018

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Nature genetics, 2011-03, Vol.43 (3), p.197-203

2011

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The role and interaction of imprinted genes in human fetal growth

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2015-03, Vol.370 (1663), p.20140074

2015

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Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

Genome Biology, 2015-11, Vol.16 (1), p.263-263, Article 263

2015

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Nature genetics, 2014-01, Vol.46 (1), p.70-76

2014

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Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

Disease models & mechanisms, 2022-01, Vol.15 (1)

2022

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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Human molecular genetics, 2012-04, Vol.21 (7), p.1496-1503

2012

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Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Disease models & mechanisms, 2014-10, Vol.7 (10), p.1153-1163

2014

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Mouse Models of Syndromic Craniosynostosis

Molecular syndromology, 2019-02, Vol.10 (1-2), p.58-73

2019

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Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse

Current biology, 2003-07, Vol.13 (13), p.1129-1133

2003

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Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion

Reproductive biomedicine online, 2015-11, Vol.31 (5), p.681-688

2015

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Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression

Human molecular genetics, 2009-08, Vol.18 (16), p.3066-3074

2009

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Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

Disease models & mechanisms, 2018-11, Vol.11 (11)

2018

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Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight

PloS one, 2014-01, Vol.9 (1), p.e85454-e85454

2014

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The emerging role of epigenetic mechanisms in the etiology of neural tube defects

Epigenetics, 2011-07, Vol.6 (7), p.875-883

2011

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The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice

Development (Cambridge), 2008-12, Vol.135 (23), p.3959-3968

2008

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Fat dads must not be blamed for their children's health problems

BMC medicine, 2013-02, Vol.11 (1), p.30-30, Article 30

2013

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Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

Genome Research, 2008-08, Vol.18 (8), p.1270-1281

2008

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Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages [version 1; peer review: 2 approved]

F1000 research, 2019, Vol.8, p.273-273

2019

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Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Human molecular genetics, 2007-11, Vol.16 (21), p.2640-2646

2007

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Evaluation of allelic expression of imprinted genes in adult human blood

PloS one, 2010-10, Vol.5 (10), p.e13556-e13556

2010

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Neural tube defects: recent advances, unsolved questions, and controversies

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

The role and interaction of imprinted genes in human fetal growth

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Mouse Models of Syndromic Craniosynostosis

Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight

The emerging role of epigenetic mechanisms in the etiology of neural tube defects

The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice

Fat dads must not be blamed for their children's health problems

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages [version 1; peer review: 2 approved]

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Evaluation of allelic expression of imprinted genes in adult human blood

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